Marfan's syndrome

From Ganfyd

Aetiology

• Missense mutations of fibrillin-1 gene (FBN1) on chromosome 15.
• Causes production of an abnormal fibrillin protein that when combined with normal fibrillin results in weak connective tissue. (ie a dominant negative aetiology).
• Causes production of excess active transforming growth factor beta (TGF-&beta).

Diagnosis

Presentation

• Aortic aneurysm
• Mitral valve prolapse
• Lax joints
• Lens dislocation
• Arachnodactyly
• Scoliosis

Occasionally

• Emphysema

Diagnostic criteria

See 1996 REVISED CRITERIA FOR THE MARFAN SYNDROME

Treatment

• Mouse model of Marfan's responds to Losartan a TGF-β antagonist.^[1]
• Probably also explains why beta blockers currently the treatment of choice in Marfan's work, but they are weaker TGF-β antagonists.

External links

• National (US) Marfan Foundation

References